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| Arthrogryposis v2.101 | TTN | Rebecca Foulger changed review comment from: Comment on mode of inheritance: Changed MOI from 'BOTH monoallelic and biallelic' to 'BIALLELIC' to match MOI on 'Neuromuscular arthrogryposis' panel V0.21 and review on DDG2P panel by Lucy Raymond.; to: Comment on mode of inheritance: With agreement from Zerin Hyder, changed MOI from 'BOTH monoallelic and biallelic' to 'BIALLELIC' to match MOI on 'Neuromuscular arthrogryposis' panel V0.21 and review on DDG2P panel by Lucy Raymond. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.101 | TTN |
Zerin Hyder changed review comment from: Bryen et al: eight families with arthrogryposis multiplex congenita and myopathy bearing a TTN intron 213 extended splice-site variant (c.39974-11T>G), inherited in trans with a second pathogenic TTN variant. By Sanger sequencing the TTN gene in 31 patients from 23 families segregating congenital core myopathy and primary heart disease, Chauveau et al. (2014) identified homozygous or compound heterozygous mutations in 5 patients from 4 families. The severity of the phenotype varied among the families. All 5 patients had congenital or infantile muscle weakness with axial and distal joint contractures and relatively preserved respiratory function. One individual presented with arthrogryposis, dislocated hips with dysplasia, and elbow, hip, and knee contractures. Two families with AMC and biallelic truncating mutations in 29575618; 28040389.; to: By Sanger sequencing the TTN gene in 31 patients from 23 families segregating congenital core myopathy and primary heart disease, Chauveau et al. (2014) identified homozygous or compound heterozygous mutations in 5 patients from 4 families. The severity of the phenotype varied among the families. All 5 patients had congenital or infantile muscle weakness with axial and distal joint contractures and relatively preserved respiratory function. One individual presented with arthrogryposis, dislocated hips with dysplasia, and elbow, hip, and knee contractures. Bryen et al: eight families with arthrogryposis multiplex congenita and myopathy bearing a TTN intron 213 extended splice-site variant (c.39974-11T>G), inherited in trans with a second pathogenic TTN variant. Two families with AMC and biallelic truncating mutations in 29575618; 28040389. |
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| Arthrogryposis v2.92 | TTN | Rebecca Foulger Publications for gene: TTN were set to 24105469; 28040389; 31660661 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.84 | TTN | Zerin Hyder reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 24105469, 31660661, 29575618, 28040389; Phenotypes: Salih myopathy, Muscular dystrophy, limb-girdle, autosomal recessive 10; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.52 | TTN | Rebecca Foulger Classified gene: TTN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.52 | TTN | Rebecca Foulger Gene: ttn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.51 | TTN | Rebecca Foulger Mode of inheritance for gene: TTN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.50 | TTN | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'BOTH monoallelic and biallelic' to 'BIALLELIC' to match MOI on 'Neuromuscular arthrogryposis' panel V0.21 and review on DDG2P panel by Lucy Raymond. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.50 | TTN | Rebecca Foulger Mode of inheritance for gene: TTN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.49 | TTN | Rebecca Foulger Phenotypes for gene: TTN were changed from Hereditary Myopathy with Early Respiratory Failure; Cardiomyopathy, familial hypertrophic, 9, 613765; Hereditary Myopathy with Early Respiratory Failure (dominant); Udd Distal Myopathy (Dominant); Salih Myopathy (recessive); core myopathy with heart disease to Congenital titinopathy with arthrogryposis; Hereditary Myopathy with Early Respiratory Failure; Cardiomyopathy, familial hypertrophic, 9, 613765; Hereditary Myopathy with Early Respiratory Failure (dominant); Udd Distal Myopathy (Dominant); Salih Myopathy (recessive); core myopathy with heart disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.48 | TTN | Rebecca Foulger Publications for gene: TTN were set to 24105469 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.47 | TTN | Rebecca Foulger commented on gene: TTN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis | TTN | Alice Gardham marked TTN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis | TTN | Alice Gardham classified TTN as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis | TTN | Alice Gardham reviewed TTN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||